ClinVar Miner

Submissions for variant NM_001353812.2(ATP11C):c.1520+6G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003338141 SCV004047093 uncertain significance X-linked congenital hemolytic anemia criteria provided, single submitter clinical testing The splice site variant c.1520+6G>A in ATP11C gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1520+6G>A variant is novel (not in any individuals) in 1000 Genomes and allele frequency of 0.00058% is reported in gnomAD. This variant is does not affect an invariant splice nucleotide and hence functional studies will be required for further significance. In silico splice tools are contradictory in their predictions. For these reasons, this variant has been classified as Uncertain Significance .

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